Overview of BAP1 cancer predisposition syndrome and the relationship to uveal melanoma
Tài liệu tham khảo
Shields, 2015, Melanoma of the eye: revealing hidden secrets, one at a time, Clin Dermatol, 33, 183, 10.1016/j.clindermatol.2014.10.010
Kaliki, 2017, Uveal melanoma: relatively rare but deadly cancer, Eye (Lond), 31, 241, 10.1038/eye.2016.275
Shields, 2012, Clinical spectrum and prognosis of uveal melanoma based on age at presentation in 8033 cases, Retina, 32, 1363, 10.1097/IAE.0b013e31824d09a8
Singh, 1996, Familial uveal melanoma. Clinical observations on 56 patients, Arch Ophthalmol, 114, 392, 10.1001/archopht.1996.01100130388005
Abdel-Rahman, 2010, Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma, Fam Cancer, 9, 431, 10.1007/s10689-010-9328-7
Rai, 2017, Germline BAP1 alterations in familial uveal melanoma, Genes Chromosomes Cancer, 56, 168, 10.1002/gcc.22424
Henkind, 1971, Breast carcinoma and concurrent uveal melanoma, Am J Ophthalmol, 71, 198, 10.1016/0002-9394(71)90390-4
Rednam, 1981, Uveal melanoma in association with multiple malignancies. A case report and review, Retina, 1, 100, 10.1097/00006982-198101020-00005
van Hees, 1998, Occurrence of cutaneous and uveal melanoma in patients with uveal melanoma and their first-degree relatives, Melanoma Res, 8, 175, 10.1097/00008390-199804000-00013
Diener-West, 2005, Second primary cancers after enrollment in the COMS trials for treatment of choroidal melanoma: COMS report no. 25, Arch Ophthalmol, 123, 601, 10.1001/archopht.123.5.601
Herlyn, 2010, Taking the guesswork out of uveal melanoma, N Engl J Med, 363, 2256, 10.1056/NEJMe1010681
Helgadottir, 2016, The genetics of uveal melanoma: current insights, Appl Clin Genet, 9, 147, 10.2147/TACG.S69210
Gupta, 2015, Clinical characteristics of uveal melanoma in patients with germline BAP1 mutations, JAMA Ophthalmol, 133, 881, 10.1001/jamaophthalmol.2015.1119
Wang, 2016, Gene of the month: BAP1, J Clin Pathol, 69, 750, 10.1136/jclinpath-2016-203866
Yu, 2010, The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression, Mol Cell Biol, 30, 5071, 10.1128/MCB.00396-10
Bononi, 2017, BAP1 regulates IP3R3-mediated Ca2+ flux to mitochondria suppressing cell transformation, Nature, 546, 549, 10.1038/nature22798
Jensen, 1998, BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 ring finger and enhances brca1-mediated cell growth suppression, Oncogene, 16, 1097, 10.1038/sj.onc.1201861
Carbone, 2007, A mesothelioma epidemic in Cappadocia: scientific developments and unexpected social outcomes, Nat Rev Cancer, 7, 147, 10.1038/nrc2068
Roushdy-Hammady, 2001, Genetic-susceptibility factor and malignant mesothelioma in the cappadocian region of Turkey, Lancet, 357, 444, 10.1016/S0140-6736(00)04013-7
Testa, 2011, Germline BAP1 mutations predispose to malignant mesothelioma, Nat Genet, 43, 1022, 10.1038/ng.912
Harbour, 2010, Frequent mutation of BAP1 in metastasizing uveal melanomas, Science, 330, 1410, 10.1126/science.1194472
Wiesner, 2011, Germline mutations in BAP1 predispose to melanocytic tumors, Nat Genet, 43, 1018, 10.1038/ng.910
Peña-Llopis, 2012, BAP1 loss defines a new class of renal cell carcinoma, Nat Genet, 44, 751, 10.1038/ng.2323
Rai, 2016, Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases, Clin Genet, 89, 285, 10.1111/cge.12630
Carbone, 2012, BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs, J Transl Med, 10, 179, 10.1186/1479-5876-10-179
O'Shea, 2017, A population-based analysis of germline BAP1 mutations in melanoma, Hum Mol Genet, 26, 717
Carbone, 2015, Combined genetic and genealogic studies uncover a large BAP1 cancer syndrome kindred tracing back nine generations to a common ancestor from the 1700s, PLoS Genet, 11, 10.1371/journal.pgen.1005633
Njauw, 2012, Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families, PLoS One, 7, 10.1371/journal.pone.0035295
Farzin, 2015, Loss of expression of BAP1 predicts longer survival in mesothelioma, Pathology, 47, 302, 10.1097/PAT.0000000000000250
Ohar, 2016, Germline BAP1 mutational landscape of asbestos-exposed malignant mesothelioma patients with family history of cancer, Cancer Res, 76, 206, 10.1158/0008-5472.CAN-15-0295
Kumar, 2015, BAP1 has a survival role in cutaneous melanoma, J Investig Dermatol, 135, 1089, 10.1038/jid.2014.528
Hakimi, 2013, Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network, Clin Cancer Res, 19, 3259, 10.1158/1078-0432.CCR-12-3886
Murali, 2013, Tumors associated with BAP1 mutations, Pathology, 45, 116, 10.1097/PAT.0b013e32835d0efb
Battaglia, 2014, The importance of multidisciplinary approach in early detection of BAP1 tumor predisposition syndrome: clinical management and risk assessment, Clin Med Insights Oncol, 8, 37, 10.4137/CMO.S15239
Carbone, 2013, BAP1 and cancer, Nat Rev Cancer, 13, 153, 10.1038/nrc3459
Harbour, 2012, The genetics of uveal melanoma: an emerging framework for targeted therapy, Pigment Cell Melanoma Res, 25, 171, 10.1111/j.1755-148X.2012.00979.x
Shields, 2017, Personalized uveal melanoma prognosis based on cytogenetic profile in 1059 cases over an 8-year period. The 2017 Harry S. Gradle lecture, Ophthalmology, 124, 1523, 10.1016/j.ophtha.2017.04.003
Shields, 2017, Cytogenetic abnormalities in uveal melanoma based on tumor features and size in 1059 patients: the 2016 W. Richard Green lecture, Ophthalmology, 124, 609, 10.1016/j.ophtha.2016.12.026
Chattopadhyay, 2016, Uveal melanoma: from diagnosis to treatment and the science in between, Cancer, 122, 2299, 10.1002/cncr.29727
Van de Nes, 2016, Comparing the prognostic value of BAP1 mutation pattern, chromosome 3 status, and BAP1 immunohistochemistry in uveal melanoma, Am J Surg Pathol, 40, 796, 10.1097/PAS.0000000000000645
Field, 2014, Recent developments in prognostic and predictive testing in uveal melanoma, Curr Opin Ophthalmol, 25, 234, 10.1097/ICU.0000000000000051
Martin, 2013, Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3, Nat Genet, 45, 933, 10.1038/ng.2674
Aoude, 2013, Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases, Pigment Cell Melanoma Res, 26, 278, 10.1111/pcmr.12046
Turunen, 2016, BAP1 germline mutations in Finnish patients with uveal melanoma, Ophthalmology, 123, 1112, 10.1016/j.ophtha.2016.01.008
Griewank, 2014, Genetic and clinico-pathologic analysis of metastatic uveal melanoma, Mod Pathol, 27, 175, 10.1038/modpathol.2013.138
Kalirai, 2014, Lack of BAP1 protein expression in uveal melanoma is associated with increased metastatic risk and has utility in routine prognostic testing, Br J Cancer, 111, 1373, 10.1038/bjc.2014.417
Harbour, 2014, A molecular revolution in uveal melanoma: implications for patient care and targeted therapy, Ophthalmology, 121, 1281, 10.1016/j.ophtha.2013.12.014
Rao, 2018, Multifocal choroidal melanoma in a patient with germ line BRCA1-associated protein 1 mutation, Retin Cases Brief Rep, 12, 1, 10.1097/ICB.0000000000000432
Schmidt, 2016, Genetic predisposition to kidney cancer, Semin Oncol, 43, 566, 10.1053/j.seminoncol.2016.09.001
Righi, 2016, BRCA1-associated protein 1 (BAP1) immunohistochemical expression as a diagnostic tool in malignant pleural mesothelioma classification: a large retrospective study, J Thorac Oncol, 11, 2006, 10.1016/j.jtho.2016.06.020
Valsecchi, 2018, Adjuvant sunitinib in high-risk patients with uveal melanoma: comparison with institutional controls, Ophthalmology, 125, 210, 10.1016/j.ophtha.2017.08.017
Carvajal, 2014, Effect of selumetinib vs chemotherapy on progression-free survival in uveal melanoma: a randomized clinical trial, JAMA, 311, 2397, 10.1001/jama.2014.6096